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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Propionic Acidemia (D056693)
Child Nodes:
........CoQ-responsive OXPHOS deficiency (C535470)
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9337

Name:

Propionic Acidemia

Definition:

Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

Alternative IDs:

OMIM:606054

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100.823 |C18.452.648.100.823

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D056693
MeSH: D056693
OMIM: 606054;

Genes: PCCA; PCCB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006846	Acute encephalopathy
3	HP:0001903	Anemia
4	HP:0002104	Apnea
5	HP:0001638	Cardiomyopathy
6	HP:0011695	Cerebellar hemorrhage	HP:0040283
7	HP:0002059	Cerebral atrophy
8	HP:0001259	Coma
9	HP:0002019	Constipation
10	HP:0001944	Dehydration
11	HP:0001332	Dystonia
12	HP:0000964	Eczema
13	HP:0001508	Failure to thrive
14	HP:0008872	Feeding difficulties in infancy
15	HP:0001263	Global developmental delay
16	HP:0002240	Hepatomegaly
17	HP:0001987	Hyperammonemia
18	HP:0002154	Hyperglycinemia
19	HP:0003108	Hyperglycinuria
20	HP:0001943	Hypoglycemia
21	HP:0410066	Increased level of hippuric acid in urine
22	HP:0003128	Lactic acidosis
23	HP:0001254	Lethargy
24	HP:0002509	Limb hypertonia
25	HP:0001942	Metabolic acidosis
26	HP:0008936	Muscular hypotonia of the trunk
27	HP:0001875	Neutropenia
28	HP:0000939	Osteoporosis
29	HP:0001733	Pancreatitis
30	HP:0001876	Pancytopenia
31	HP:0004396	Poor appetite
32	HP:0003353	Propionyl-CoA carboxylase deficiency
33	HP:0001250	Seizure
34	HP:0004322	Short stature
35	HP:0002789	Tachypnea
36	HP:0001873	Thrombocytopenia
37	HP:0002013	Vomiting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000282.3(PCCA):c.232-1G>A	5095	PCCA	Pathogenic	794727620	RCV000178067;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100764246	100764246	NM_000282.3:c.232-1G>A		NC_000013.10:g.100764246G>A	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.412G>A (p.Ala138Thr)	5095	PCCA	Pathogenic	202247814	RCV000032110;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100807344	100807344	NM_000282.3:c.412G>A	NP_000273.2:p.Ala138Thr	NC_000013.10:g.100807344G>A	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.491T>C (p.Ile164Thr)	5095	PCCA	Pathogenic	202247815	RCV000032111;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100861608	100861608	NM_000282.3:c.491T>C	NP_000273.2:p.Ile164Thr	NC_000013.10:g.100861608T>C	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.775_779delCTAAT (p.Leu259Argfs)	5095	PCCA	Pathogenic	794726976	RCV000173671;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100915041	100915045	NM_000282.3:c.775_779delCTAAT	NP_000273.2:p.Leu259Argfs	NC_000013.10:g.100915041_100915045delCTAAT	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.862A>T (p.Arg288Ter)	5095	PCCA	Pathogenic	121964957	RCV000012803;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100920985	100920985	NM_000282.3:c.862A>T	NP_000273.2:p.Arg288Ter	NC_000013.10:g.100920985A>G,NC_000013.10:g.100920985A>T	OMIM Allelic Variant:232000.0004	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.862A>G (p.Arg288Gly)	5095	PCCA	Pathogenic	121964957	RCV000032112;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	100920985	100920985	NM_000282.3:c.862A>G	NP_000273.2:p.Arg288Gly	NC_000013.10:g.100920985A>G,NC_000013.10:g.100920985A>T	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.937C>T (p.Arg313Ter)	5095	PCCA	Pathogenic	138149179	RCV000032113; RCV000078552;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	13	100925472	100925472	NM_000282.3:c.937C>T	NP_000273.2:p.Arg313Ter	NC_000013.10:g.100925472C>T	HGMD:CM991019	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1023dupT (p.Lys342Terfs)	5095	PCCA	Pathogenic	398123297	RCV000174236; RCV000078546;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	13	100925558	100925558	NM_000282.3:c.1023dupT	NP_000273.2:p.Lys342Terfs	NC_000013.10:g.100925558dupT	-	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1118T>A (p.Met373Lys)	5095	PCCA	Pathogenic	121964958	RCV000012804; RCV000186081;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	13	100953766	100953766	NM_000282.3:c.1118T>A	NP_000273.2:p.Met373Lys	NC_000013.10:g.100953766T>A	OMIM Allelic Variant:232000.0005	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1651G>T (p.Val551Phe)	5095	PCCA	Benign	61749895	RCV000032108; RCV000127322;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN169374	13	101020733	101020733	NM_000282.3:c.1651G>T	NP_000273.2:p.Val551Phe	NC_000013.10:g.101020733G>T	-	CN169374 not specified; C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1685C>G (p.Ser562Ter)	5095	PCCA	Pathogenic	202247816	RCV000032109;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	101020767	101020767	NM_000282.3:c.1685C>G	NP_000273.2:p.Ser562Ter	NC_000013.10:g.101020767C>G	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1788G>A (p.Trp596Ter)	5095	PCCA	Pathogenic	776496862	RCV000176030;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	101077928	101077928	NM_000282.3:c.1788G>A	NP_000273.2:p.Trp596Ter	NC_000013.10:g.101077928G>A	-	C0268579 606054 Propionic acidemia
NM_000282.3(PCCA):c.1899+4_1899+7del	5095	PCCA	Pathogenic	794727334	RCV000176154;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	13	101101563	101101566	NM_000282.3:c.1899+4_1899+7del		NC_000013.10:g.101101563_101101566delAGTA	-	C0268579 606054 Propionic acidemia
NG_008939.1:g.883_8934del8052	5096	PCCB	Pathogenic	-1	RCV000171555;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135965049	135973100	-	-		-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.2T>A (p.Met1Lys)	5096	PCCB	Pathogenic	398123462	RCV000173152; RCV000079093;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	135969219	135969219	NM_000532.4:c.2T>A	NP_000523.2:p.Met1Lys	NC_000003.11:g.135969219T>A	-	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.3G>A (p.Met1Ile)	5096	PCCB	Pathogenic	398123464	RCV000173153; RCV000079095;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	135969220	135969220	NM_000532.4:c.3G>A	NP_000523.2:p.Met1Ile	NC_000003.11:g.135969220G>A	-	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.183+1G>A	5096	PCCB	Pathogenic	398123460	RCV000173154; RCV000079091;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	135969401	135969401	NM_000532.4:c.183+1G>A		NC_000003.11:g.135969401G>A	-	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.280G>T (p.Gly94Ter)	5096	PCCB	Pathogenic	202247817	RCV000032131;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135974794	135974794	NM_000532.4:c.280G>T	NP_000523.2:p.Gly94Ter	NC_000003.11:g.135974794G>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.335G>A (p.Gly112Asp)	5096	PCCB	Pathogenic	202247818	RCV000032132;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135975428	135975428	NM_000532.4:c.335G>A	NP_000523.2:p.Gly112Asp	NC_000003.11:g.135975428G>A	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.386_387delTTinsAAC (p.Phe129Terfs)	5096	PCCB	Pathogenic	398123463	RCV000178113; RCV000079094;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	135979334	135979335	NM_000532.4:c.386_387delTTinsAAC	NP_000523.2:p.Phe129Terfs	NC_000003.11:g.135979334_135979335delTTinsAAC	-	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.418_429dupAAGATCTGCAAA (p.Lys143_Ile144insLysIleCysLys)	5096	PCCB	Pathogenic	797044729	RCV000178114;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135979366	135979377	NM_000532.4:c.418_429dupAAGATCTGCAAA	NP_000523.2:p.Lys143_Ile144insLysIleCysLys	NC_000003.11:g.135979366_135979377dupAAGATCTGCAAA	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.457G>C (p.Ala153Pro)	5096	PCCB	Pathogenic	202247819	RCV000032133;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135980821	135980821	NM_000532.4:c.457G>C	NP_000523.2:p.Ala153Pro	NC_000003.11:g.135980821G>C	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.502G>A (p.Glu168Lys)	5096	PCCB	Pathogenic	121964960	RCV000012795;	Y	MedGen:C0268579,OMIM:606054,ORPHA:35	3	135980866	135980866	NM_000532.4:c.502G>A	NP_000523.2:p.Glu168Lys	NC_000003.11:g.135980866G>A	OMIM Allelic Variant:232050.0005	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.683C>T (p.Pro228Leu)	5096	PCCB	Pathogenic	374722096	RCV000179767;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136012626	136012626	NM_000532.4:c.683C>T	NP_000523.2:p.Pro228Leu	NC_000003.11:g.136012626C>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.862G>A (p.Val288Ile)	5096	PCCB	Benign	201984177	RCV000032134;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136016892	136016892	NM_000532.4:c.862G>A	NP_000523.2:p.Val288Ile	NC_000003.11:g.136016892G>A	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.990dupT (p.Glu331Terfs)	5096	PCCB	Pathogenic	786200983	RCV000173704; RCV000153647;	N	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	136035806	136035806	NM_000532.4:c.990dupT	NP_000523.2:p.Glu331Terfs	NC_000003.11:g.136035806dupT	HGMD:CI034189	CN221809 not provided; C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1173dupT (p.Val392Cysfs)	5096	PCCB	Pathogenic	587776758	RCV000012794;	Y	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136045727	136045727	NM_000532.4:c.1173dupT	NP_000523.2:p.Val392Cysfs		OMIM Allelic Variant:232050.0004	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA (p.Gly407Argfs)	5096	PCCB	Pathogenic	397507445	RCV000032124;	Y	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136046016	136046029	NM_000532.4:c.1218_1231delGGGCATCATCCGGCinsTAGAGCACAGGA	NP_000523.2:p.Gly407Argfs	NC_000003.11:g.136046016_136046029delGGGCATCATCCGGCinsTAGAGCACAGGA	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1228C>T (p.Arg410Trp)	5096	PCCB	Pathogenic	121964959	RCV000032125;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136046026	136046026	NM_000532.4:c.1228C>T	NP_000523.2:p.Arg410Trp	NC_000003.11:g.136046026C>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1283C>T (p.Thr428Ile)	5096	PCCB	Pathogenic	111033542	RCV000012796;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136046081	136046081	NM_000532.4:c.1283C>T	NP_000523.2:p.Thr428Ile	NC_000003.11:g.136046081C>T	OMIM Allelic Variant:232050.0006	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys)	5096	PCCB	Pathogenic	121964961	RCV000012798;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136046480	136046480	NM_000532.4:c.1304A>G	NP_000523.2:p.Tyr435Cys	NC_000003.11:g.136046480A>G	OMIM Allelic Variant:232050.0008	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1398+1G>T	5096	PCCB	Pathogenic	794727092	RCV000174489;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136046575	136046575	NM_000532.4:c.1398+1G>T		NC_000003.11:g.136046575G>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1490C>T (p.Ala497Val)	5096	PCCB	Benign	142403318	RCV000032126;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136047691	136047691	NM_000532.4:c.1490C>T	NP_000523.2:p.Ala497Val	NC_000003.11:g.136047691C>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1495C>T (p.Arg499Ter)	5096	PCCB	Pathogenic	202247820	RCV000032127;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136047696	136047696	NM_000532.4:c.1495C>T	NP_000523.2:p.Arg499Ter	NC_000003.11:g.136047696C>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1534C>T (p.Arg512Cys)	5096	PCCB	Pathogenic	186710233	RCV000032128;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136048782	136048782	NM_000532.4:c.1534C>T	NP_000523.2:p.Arg512Cys	NC_000003.11:g.136048782C>T	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1539_1540insCCC (p.Ala513_Arg514insPro)	5096	PCCB	Pathogenic	202247821	RCV000012797;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136048787	136048788	NM_000532.4:c.1539_1540insCCC	NP_000523.2:p.Ala513_Arg514insPro	NC_000003.11:g.136048787_136048788insCCC	OMIM Allelic Variant:232050.0007	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1556T>C (p.Leu519Pro)	5096	PCCB	Pathogenic	202247822	RCV000032129;	N	MedGen:C0268579,OMIM:606054,ORPHA:35	3	136048804	136048804	NM_000532.4:c.1556T>C	NP_000523.2:p.Leu519Pro	NC_000003.11:g.136048804T>C	-	C0268579 606054 Propionic acidemia
NM_000532.4(PCCB):c.1606A>G (p.Asn536Asp)	5096	PCCB	Pathogenic	202247823	RCV000032130; RCV000079090;	Y	MedGen:C0268579,OMIM:606054,ORPHA:35; MedGen:CN221809	3	136048854	136048854	NM_000532.4:c.1606A>G	NP_000523.2:p.Asn536Asp	NC_000003.11:g.136048854A>G	HGMD:CM941148	CN221809 not provided; C0268579 606054 Propionic acidemia